THE STUDY OF VDR FOKI RS2228570 SNP IN AUTOIMMUNE THYROIDITIS

Area of Science:

• Genetics
• Immunology
• Endocrinology

Background:

• Autoimmune thyroid disease (AITD) is a common organ-specific autoimmune disorder influenced by genetic and epigenetic factors.
• The Vitamin D receptor (VDR) gene polymorphism has been linked to various autoimmune conditions, including AITD.
• Investigating specific VDR polymorphisms can elucidate their role in AITD susceptibility.

Purpose of the Study:

• To determine the frequency of VDR Fokl (rs2228570) genotypes and alleles in women with autoimmune thyroiditis.
• To compare genotype and allele frequencies between patients with AITD and healthy controls.
• To examine potential associations between VDR Fokl polymorphism and clinical/laboratory characteristics in AITD.

Main Methods:

• Genotyping of VDR Fokl (rs2228570) using polymerase chain reaction (PCR) on DNA from 150 women (75 with AITD, 75 healthy controls) from Adjara, Georgia.
• Diagnosis of AITD confirmed by anti-thyroid peroxidase (anti-TPO) antibodies, TSH levels (ELISA), and ultrasound.
• Analysis of VDR Fokl genotypes (CC, CT, TT) and alleles (C, T) frequencies.

Main Results:

• The CC genotype was more frequent in the AITD group (57.33%) compared to controls (48%).
• The CT genotype was also more frequent in the AITD group (34.67%) versus controls (29.33%).
• The TT genotype was less frequent in the AITD group (8%) than in controls (22.67%).
• The C allele was highly frequent in both patient and control populations, with the T allele being less frequent.

Conclusions:

• The VDR Fokl (rs2228570) CC and CT genotypes are associated with an increased frequency in autoimmune thyroiditis patients.
• The TT genotype of VDR Fokl (rs2228570) appears to be less prevalent in individuals with autoimmune thyroiditis.
• The VDR Fokl polymorphism, particularly the C allele, may play a role in the genetic susceptibility to autoimmune thyroid disease.